Zobrazeno 1 - 10
of 298
pro vyhledávání: '"Huw, R Morris"'
Autor:
Clodagh Towns, Zih-Hua Fang, Manuela M. X. Tan, Simona Jasaityte, Theresa M. Schmaderer, Eleanor J. Stafford, Miriam Pollard, Russel Tilney, Megan Hodgson, Lesley Wu, Robyn Labrum, Jason Hehir, James Polke, Lara M. Lange, Anthony H. V. Schapira, Kailash P. Bhatia, Parkinson’s Families Project (PFP) Study Group, Global Parkinson’s Genetics Program (GP2), Andrew B. Singleton, Cornelis Blauwendraat, Christine Klein, Henry Houlden, Nicholas W. Wood, Paul R. Jarman, Huw R. Morris, Raquel Real
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-13 (2024)
Abstract The Parkinson’s Families Project is a UK-wide study aimed at identifying genetic variation associated with familial and early-onset Parkinson’s disease (PD). We recruited individuals with a clinical diagnosis of PD and age at motor sympt
Externí odkaz:
https://doaj.org/article/492a58c74a1046dba388813690ffc138
Autor:
Kurt Farrell, Jack Humphrey, Timothy Chang, Yi Zhao, Yuk Yee Leung, Pavel P. Kuksa, Vishakha Patil, Wan-Ping Lee, Amanda B. Kuzma, Otto Valladares, Laura B. Cantwell, Hui Wang, Ashvin Ravi, Claudia De Sanctis, Natalia Han, Thomas D. Christie, Robina Afzal, Shrishtee Kandoi, Kristen Whitney, Margaret M. Krassner, Hadley Ressler, SoongHo Kim, Diana Dangoor, Megan A. Iida, Alicia Casella, Ruth H. Walker, Melissa J. Nirenberg, Alan E. Renton, Bergan Babrowicz, Giovanni Coppola, Towfique Raj, Günter U. Höglinger, Ulrich Müller, Lawrence I. Golbe, Huw R. Morris, John Hardy, Tamas Revesz, Tom T. Warner, Zane Jaunmuktane, Kin Y. Mok, Rosa Rademakers, Dennis W. Dickson, Owen A. Ross, Li-San Wang, Alison Goate, Gerard Schellenberg, Daniel H. Geschwind, PSP Genetics Study Group, John F. Crary, Adam Naj
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Abstract Progressive supranuclear palsy (PSP), a rare Parkinsonian disorder, is characterized by problems with movement, balance, and cognition. PSP differs from Alzheimer’s disease (AD) and other diseases, displaying abnormal microtubule-associate
Externí odkaz:
https://doaj.org/article/07eaa87799dd4d0f92bc88b303182da0
Autor:
Manuela M. X. Tan, Michael A. Lawton, Miriam I. Pollard, Emmeline Brown, Raquel Real, Alejandro Martinez Carrasco, Samir Bekadar, Edwin Jabbari, Regina H. Reynolds, Hirotaka Iwaki, Cornelis Blauwendraat, Sofia Kanavou, Leon Hubbard, Naveed Malek, Katherine A. Grosset, Nin Bajaj, Roger A. Barker, David J. Burn, Catherine Bresner, Thomas Foltynie, Nicholas W. Wood, Caroline H. Williams-Gray, Ole A. Andreassen, Mathias Toft, Alexis Elbaz, Fanny Artaud, Alexis Brice, Jean-Christophe Corvol, Jan Aasly, Matthew J. Farrer, Michael A. Nalls, Andrew B. Singleton, Nigel M. Williams, Yoav Ben-Shlomo, John Hardy, Michele T. M. Hu, Donald G. Grosset, Maryam Shoai, Lasse Pihlstrøm, Huw R. Morris
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-15 (2024)
Abstract There are 90 independent genome-wide significant genetic risk variants for Parkinson’s disease (PD) but currently only five nominated loci for PD progression. The biology of PD progression is likely to be of central importance in defining
Externí odkaz:
https://doaj.org/article/b1dcf9f75c9e4bc4bc4699609e993749
Autor:
Poornima Jayadev Menon, Sara Sambin, Baptiste Criniere-Boizet, Thomas Courtin, Christelle Tesson, Fanny Casse, Melanie Ferrien, Louise-Laure Mariani, Stephanie Carvalho, Francois-Xavier Lejeune, Sana Rebbah, Gaspard Martet, Marion Houot, Aymeric Lanore, Graziella Mangone, Emmanuel Roze, Marie Vidailhet, Jan Aasly, Ziv Gan Or, Eric Yu, Yves Dauvilliers, Alexander Zimprich, Volker Tomantschger, Walter Pirker, Ignacio Álvarez, Pau Pastor, Alessio Di Fonzo, Kailash P. Bhatia, Francesca Magrinelli, Henry Houlden, Raquel Real, Andrea Quattrone, Patricia Limousin, Prasad Korlipara, Thomas Foltynie, Donald Grosset, Nigel Williams, Derek Narendra, Hsin-Pin Lin, Carna Jovanovic, Marina Svetel, Timothy Lynch, Amy Gallagher, Wim Vandenberghe, Thomas Gasser, Kathrin Brockmann, Huw R. Morris, Max Borsche, Christine Klein, Olga Corti, Alexis Brice, Suzanne Lesage, Jean Christophe Corvol, French Parkinson disease Genetics Study Group (PDG)
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-12 (2024)
Abstract Bi-allelic pathogenic variants in PRKN are the most common cause of autosomal recessive Parkinson’s disease (PD). 647 patients with PRKN-PD were included in this international study. The pathogenic variants present were characterised and i
Externí odkaz:
https://doaj.org/article/70e73e8ef588464cb23a2e9bc5b7be18
Autor:
Kurt Farrell, Jack Humphrey, Timothy Chang, Yi Zhao, Yuk Yee Leung, Pavel P. Kuksa, Vishakha Patil, Wan-Ping Lee, Amanda B. Kuzma, Otto Valladares, Laura B. Cantwell, Hui Wang, Ashvin Ravi, Claudia De Sanctis, Natalia Han, Thomas D. Christie, Robina Afzal, Shrishtee Kandoi, Kristen Whitney, Margaret M. Krassner, Hadley Ressler, SoongHo Kim, Diana Dangoor, Megan A. Iida, Alicia Casella, Ruth H. Walker, Melissa J. Nirenberg, Alan E. Renton, Bergan Babrowicz, Giovanni Coppola, Towfique Raj, Günter U. Höglinger, Ulrich Müller, Lawrence I. Golbe, Huw R. Morris, John Hardy, Tamas Revesz, Tom T. Warner, Zane Jaunmuktane, Kin Y. Mok, Rosa Rademakers, Dennis W. Dickson, Owen A. Ross, Li-San Wang, Alison Goate, Gerard Schellenberg, Daniel H. Geschwind, PSP Genetics Study Group, John F. Crary, Adam Naj
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-2 (2024)
Externí odkaz:
https://doaj.org/article/00e4e9b861df4fde8b25166bf80aa5f6
Defining the causes of sporadic Parkinson’s disease in the global Parkinson’s genetics program (GP2)
Autor:
Clodagh Towns, Madeleine Richer, Simona Jasaityte, Eleanor J. Stafford, Julie Joubert, Tarek Antar, Alejandro Martinez-Carrasco, Mary B. Makarious, Bradford Casey, Dan Vitale, Kristin Levine, Hampton Leonard, Caroline B. Pantazis, Laurel A. Screven, Dena G. Hernandez, Claire E. Wegel, Justin Solle, Mike A. Nalls, Cornelis Blauwendraat, Andrew B. Singleton, Manuela M. X. Tan, Hirotaka Iwaki, Huw R. Morris, the Global Parkinson’s Genetics Program (GP2)
Publikováno v:
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-6 (2023)
Abstract The Global Parkinson’s Genetics Program (GP2) will genotype over 150,000 participants from around the world, and integrate genetic and clinical data for use in large-scale analyses to dramatically expand our understanding of the genetic ar
Externí odkaz:
https://doaj.org/article/1f9f2390f82e440aa0932ccba0225cfc
Autor:
Alejandro Martinez-Carrasco, Raquel Real, Michael Lawton, Hirotaka Iwaki, Manuela M. X. Tan, Lesley Wu, Nigel M. Williams, Camille Carroll, Michele T. M. Hu, Donald G. Grosset, John Hardy, Mina Ryten, Tom Foltynie, Yoav Ben-Shlomo, Maryam Shoai, Huw R. Morris
Publikováno v:
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-12 (2023)
Abstract The genetic basis of levodopa-induced-dyskinesia (LiD) is poorly understood, and there have been few well-powered genome-wide studies. We performed a genome-wide survival meta-analyses to study the effect of genetic variation on the developm
Externí odkaz:
https://doaj.org/article/cec4d30a7b3a4bf787d978b96c439ea7
Autor:
Mary B. Makarious, Hampton L. Leonard, Dan Vitale, Hirotaka Iwaki, Lana Sargent, Anant Dadu, Ivo Violich, Elizabeth Hutchins, David Saffo, Sara Bandres-Ciga, Jonggeol Jeff Kim, Yeajin Song, Melina Maleknia, Matt Bookman, Willy Nojopranoto, Roy H. Campbell, Sayed Hadi Hashemi, Juan A. Botia, John F. Carter, David W. Craig, Kendall Van Keuren-Jensen, Huw R. Morris, John A. Hardy, Cornelis Blauwendraat, Andrew B. Singleton, Faraz Faghri, Mike A. Nalls
Publikováno v:
npj Parkinson's Disease, Vol 8, Iss 1, Pp 1-13 (2022)
Abstract Personalized medicine promises individualized disease prediction and treatment. The convergence of machine learning (ML) and available multimodal data is key moving forward. We build upon previous work to deliver multimodal predictions of Pa
Externí odkaz:
https://doaj.org/article/bf993193034245da8c1471e3cf972739
Automated Brainstem Segmentation Detects Differential Involvement in Atypical Parkinsonian Syndromes
Autor:
Martina Bocchetta, Juan Eugenio Iglesias, Viorica Chelban, Edwin Jabbari, Ruth Lamb, Lucy L. Russell, Caroline V. Greaves, Mollie Neason, David M. Cash, David L. Thomas, Jason D. Warren, John Woodside, Henry Houlden, Huw R. Morris, Jonathan D. Rohrer
Publikováno v:
Journal of Movement Disorders, Vol 13, Iss 1, Pp 39-46 (2020)
Objective Brainstem segmentation has been useful in identifying potential imaging biomarkers for diagnosis and progression in atypical parkinsonian syndromes (APS). However, the majority of work has been performed using manual segmentation, which is
Externí odkaz:
https://doaj.org/article/086030a0abc54efba8a6042898e6698e
Autor:
Sofia Kanavou, Vanessa Pitz, Michael A. Lawton, Naveed Malek, Katherine A. Grosset, Huw R. Morris, Yoav Ben‐Shlomo, Donald G. Grosset
Publikováno v:
Brain and Behavior, Vol 11, Iss 8, Pp n/a-n/a (2021)
Abstract Objectives Hyposmia is a common feature of Parkinson's disease (PD), yet there is no standard method to define it. A comparison of four published methods was performed to explore and highlight differences. Materials and methods Olfactory tes
Externí odkaz:
https://doaj.org/article/c77dd85a60804422bc72a0fc8a4b5352